Canonical Allele Identifier: CA345374766

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015869T>C (hg19) ; chr1:g.236852569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852569T>C , CM000663.2:g.236852569T>C	GRCh38
NC_000001.10:g.237015869T>C , CM000663.1:g.237015869T>C	GRCh37
NC_000001.9:g.235082492T>C	NCBI36
NG_008959.1:g.62289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1744T>C MANE Select	ENSP00000355536.5:p.Phe582Leu
ENST00000535889.6:c.1744T>C	ENSP00000441845.1:p.Phe582Leu
ENST00000650888.1:c.*786T>C	ENSP00000498393.1:n.*786T>C
ENST00000651455.1:c.*488T>C	ENSP00000498963.1:n.*488T>C
ENST00000674797.2:c.1396T>C	ENSP00000502299.2:p.Phe466Leu
ENST00000679569.1:n.2058T>C
ENST00000679842.1:c.1744T>C	ENSP00000506109.1:p.Phe582Leu
ENST00000680454.1:n.2188T>C
ENST00000681102.1:c.1564T>C	ENSP00000505600.1:p.Phe522Leu
ENST00000681177.1:c.1516-7264T>C	ENSP00000506327.1:n.1516-7264T>C
ENST00000681937.1:n.2148-7264T>C
ENST00000366576.3:c.406T>C	ENSP00000355535.3:p.Phe136Leu
ENST00000366577.9:c.1744T>C	ENSP00000355536.5:p.Phe582Leu
ENST00000463959.1:n.1763T>C
ENST00000535889.5:c.1744T>C	ENSP00000441845.1:p.Phe582Leu
NM_000254.2:c.1744T>C	NP_000245.2:p.Phe582Leu
NM_001291939.1:c.1744T>C	NP_001278868.1:p.Phe582Leu
NM_001291940.1:c.523T>C	NP_001278869.1:p.Phe175Leu
XM_005273141.3:c.1741T>C	XP_005273198.1:p.Phe581Leu
XM_006711769.2:c.1744T>C	XP_006711832.1:p.Phe582Leu
XM_006711770.1:c.808T>C	XP_006711833.1:p.Phe270Leu
XM_011544193.1:c.1744T>C	XP_011542495.1:p.Phe582Leu
XM_011544194.1:c.1912T>C	XP_011542496.1:p.Phe638Leu
XM_005273141.5:c.1741T>C	XP_005273198.1:p.Phe581Leu
XM_006711770.3:c.808T>C	XP_006711833.1:p.Phe270Leu
XM_011544194.3:c.1912T>C	XP_011542496.1:p.Phe638Leu
XM_017001329.2:c.1912T>C	XP_016856818.1:p.Phe638Leu
XM_017001330.2:c.1912T>C	XP_016856819.1:p.Phe638Leu
NM_001291940.2:c.523T>C	NP_001278869.1:p.Phe175Leu
NM_000254.3:c.1744T>C MANE Select	NP_000245.2:p.Phe582Leu